Human mutation - JoVE Visualize

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Human Mutation|January 1, 1997

Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNAV W Liu, C Zhang, A W Linnane, et al.

Human Mutation|January 1, 1996

Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCAK L Harteveld, A J Heister, P C Giordano, et al.

Human Mutation|January 1, 1996

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzymeH G Eiken, P M Knappskog, J Apold, et al.

Human Mutation|January 1, 1997

Analysis of the myoglobin gene in heart diseaseE Fernandez, A Duke, I Sevrioukova, et al.

Human Mutation|January 1, 1997

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemiaH K Jensen, T G Jensen, O Faergeman, et al.

Human Mutation|January 1, 1997

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.

Human Mutation|June 20, 1998

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafnessC Olsson, B Zethelius, M Lagerström-Fermér, et al.

Human Mutation|August 20, 2016

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant DiseaseBrenden Chen, Constanza Solis-Villa, Jörg Hakenberg, et al.

Human Mutation|May 13, 2015

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I ProcollagenJennifer Schleit, Samuel S Bailey, Thao Tran, et al.

Human Mutation|May 15, 2015

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding RegionsStefan H Lelieveld, Malte Spielmann, Stefan Mundlos, et al.

Pageof 578

Showing results (1241-1250 of 5,773) with videos related to

Sort By:

Pageof 578

Human Mutation|January 1, 1997

Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNAV W Liu, C Zhang, A W Linnane, et al.

Human Mutation|January 1, 1996

Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCAK L Harteveld, A J Heister, P C Giordano, et al.

Human Mutation|January 1, 1996

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzymeH G Eiken, P M Knappskog, J Apold, et al.

Human Mutation|January 1, 1997

Analysis of the myoglobin gene in heart diseaseE Fernandez, A Duke, I Sevrioukova, et al.

Human Mutation|January 1, 1997

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemiaH K Jensen, T G Jensen, O Faergeman, et al.

Human Mutation|January 1, 1997

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.

Human Mutation|June 20, 1998

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafnessC Olsson, B Zethelius, M Lagerström-Fermér, et al.

Human Mutation|August 20, 2016

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant DiseaseBrenden Chen, Constanza Solis-Villa, Jörg Hakenberg, et al.

Human Mutation|May 13, 2015

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I ProcollagenJennifer Schleit, Samuel S Bailey, Thao Tran, et al.

Human Mutation|May 15, 2015

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding RegionsStefan H Lelieveld, Malte Spielmann, Stefan Mundlos, et al.

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